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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 14-73276838-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73276838&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73276838,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001005743.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Glu566Gln",
"transcript": "NM_001005743.2",
"protein_id": "NP_001005743.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 651,
"cds_start": 1696,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": "ENST00000555238.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Glu566Gln",
"transcript": "ENST00000555238.6",
"protein_id": "ENSP00000451300.1",
"transcript_support_level": 1,
"aa_start": 566,
"aa_end": null,
"aa_length": 651,
"cds_start": 1696,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": "NM_001005743.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1663G>C",
"hgvs_p": "p.Glu555Gln",
"transcript": "ENST00000557597.5",
"protein_id": "ENSP00000451117.1",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 640,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1552G>C",
"hgvs_p": "p.Glu518Gln",
"transcript": "ENST00000356296.8",
"protein_id": "ENSP00000348644.4",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 603,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1552G>C",
"hgvs_p": "p.Glu518Gln",
"transcript": "ENST00000555394.5",
"protein_id": "ENSP00000451625.1",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 603,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1519G>C",
"hgvs_p": "p.Glu507Gln",
"transcript": "ENST00000554546.5",
"protein_id": "ENSP00000452416.1",
"transcript_support_level": 1,
"aa_start": 507,
"aa_end": null,
"aa_length": 592,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1264G>C",
"hgvs_p": "p.Glu422Gln",
"transcript": "ENST00000556772.5",
"protein_id": "ENSP00000451513.1",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 507,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 3552,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1258G>C",
"hgvs_p": "p.Glu420Gln",
"transcript": "ENST00000560335.5",
"protein_id": "ENSP00000453209.1",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 505,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1225G>C",
"hgvs_p": "p.Glu409Gln",
"transcript": "ENST00000555738.6",
"protein_id": "ENSP00000452069.2",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 494,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1111G>C",
"hgvs_p": "p.Glu371Gln",
"transcript": "ENST00000559312.5",
"protein_id": "ENSP00000452888.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 456,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 1439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Glu360Gln",
"transcript": "ENST00000554521.6",
"protein_id": "ENSP00000450817.2",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 445,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Glu566Gln",
"transcript": "ENST00000355058.7",
"protein_id": "ENSP00000347169.3",
"transcript_support_level": 5,
"aa_start": 566,
"aa_end": null,
"aa_length": 651,
"cds_start": 1696,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1663G>C",
"hgvs_p": "p.Glu555Gln",
"transcript": "NM_003744.6",
"protein_id": "NP_003735.3",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 640,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1663G>C",
"hgvs_p": "p.Glu555Gln",
"transcript": "ENST00000359560.7",
"protein_id": "ENSP00000352563.3",
"transcript_support_level": 5,
"aa_start": 555,
"aa_end": null,
"aa_length": 640,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1552G>C",
"hgvs_p": "p.Glu518Gln",
"transcript": "NM_001005744.2",
"protein_id": "NP_001005744.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 603,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1552G>C",
"hgvs_p": "p.Glu518Gln",
"transcript": "NM_001320114.2",
"protein_id": "NP_001307043.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 603,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1552G>C",
"hgvs_p": "p.Glu518Gln",
"transcript": "ENST00000535282.5",
"protein_id": "ENSP00000441258.2",
"transcript_support_level": 5,
"aa_start": 518,
"aa_end": null,
"aa_length": 603,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1519G>C",
"hgvs_p": "p.Glu507Gln",
"transcript": "NM_001005745.2",
"protein_id": "NP_001005745.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 592,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"hgvs_c": "c.1111G>C",
"hgvs_p": "p.Glu371Gln",
"transcript": "ENST00000544991.7",
"protein_id": "ENSP00000446001.3",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 456,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NUMB",
"gene_hgnc_id": 8060,
"dbsnp": "rs1023962835",
"frequency_reference_population": 0.0000018588121,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136821,
"gnomad_genomes_af": 0.00000657177,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1543959677219391,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.1281,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.974,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001005743.2",
"gene_symbol": "NUMB",
"hgnc_id": 8060,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Glu566Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}